ClinVar Miner

Submissions for variant NM_000492.3(CFTR):c.57G>T (p.Trp19Cys) (rs397508762)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Johns Hopkins Genomics, Johns Hopkins University RCV000577168 SCV001425383 likely pathogenic Cystic fibrosis 2020-02-10 criteria provided, single submitter clinical testing This CFTR variant has been observed in a patient with cystic fibrosis. It is absent from a large population dataset and although it is present in ClinVar, no classification is provided. Three bioinformatics tools predict that this subsitution would probably be damaging and tryptophan at this position is evolutionarily conserved among the species assessed. One study indicates that p.Try19Cys affects the glycosylation of CFTR. This suggests that this substitution may be functionally signficant, however this study has not been replicated to our knowledge. We consider c.57G>T to be likely pathogenic.
ClinVar Staff, National Center for Biotechnology Information (NCBI) RCV000577168 SCV000679475 not provided Cystic fibrosis no assertion provided literature only

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